Gene: CSF3R

Alternate names for this Gene: CD114|GCSFR|SCN7

Gene Summary: The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.3

Description of this Gene: colony stimulating factor 3 receptor

Type of Gene: protein-coding

rs3917914 in CSF3R gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3917914 in CSF3R gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3917914 in CSF3R gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs796065343 in CSF3R gene and Leukemia, Myelocytic, Acute PMID 23634996 2013 Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

rs1057519776 in CSF3R gene and Myeloid Leukemia, Chronic PMID 23656643 2013 Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.

rs138156467 in CSF3R gene and NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE PMID 26324699 2015 GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.

rs3917914 in CSF3R gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3917914 in CSF3R gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.